Gene Gene information from NCBI Gene database.
Entrez ID 23072
Gene name HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1
Gene symbol HECW1
Synonyms (NCBI Gene)
NEDL1
Chromosome 7
Chromosome location 7p14.1-p13
miRNA miRNA information provided by mirtarbase database.
71
miRTarBase ID miRNA Experiments Reference
MIRT536936 hsa-miR-29b-3p PAR-CLIP 22012620
MIRT536935 hsa-miR-29a-3p PAR-CLIP 22012620
MIRT536934 hsa-miR-29c-3p PAR-CLIP 22012620
MIRT536933 hsa-miR-6835-3p PAR-CLIP 22012620
MIRT536932 hsa-miR-548c-3p PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0004842 Function Ubiquitin-protein transferase activity IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610384 22195 ENSG00000002746
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q76N89
Protein name E3 ubiquitin-protein ligase HECW1 (EC 2.3.2.26) (HECT, C2 and WW domain-containing protein 1) (HECT-type E3 ubiquitin transferase HECW1) (NEDD4-like E3 ubiquitin-protein ligase 1) (hNEDL1)
Protein function E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent degradation of DVL1. Also targets the mutant SOD1 protein involved in familial amyotrophic lateral sclerosis (FALS). Forms cytotoxic aggregates with DVL1, SSR3 and mutant SO
PDB 3L4H
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16562 HECW_N 65 184 N-terminal domain of E3 ubiquitin-protein ligase HECW1 and 2 Domain
PF00168 C2 206 319 C2 domain Domain
PF00397 WW 831 860 WW domain Domain
PF18436 HECW1_helix 948 1014 Helical box domain of E3 ubiquitin-protein ligase HECW1 Domain
PF00632 HECT 1301 1606 HECT-domain (ubiquitin-transferase) Domain
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in neurons of adult and fetal brain. Weakly expressed in the kidney. {ECO:0000269|PubMed:14684739}.
Sequence
MLLHLCSVKNLYQNRFLGLAAMASPSRNSQSRRRCKEPLRYSYNPDQFHNMDLRGGPHDG
VTIPRSTSDTDLVTSDSRSTLMVSSSYYSIGHSQDLVIHWDIKEEVDAGDWIGMYLIDEV
LSENFLDYKNRGVNGSHRGQIIWKIDASSYFVEPETKICFKYYHGVSGALRATTPSVTVK
NSAA
PIFKSIGADETVQGQGSRRLISFSLSDFQAMGLKKGMFFNPDPYLKISIQPGKHSI
FPALPHHGQERRSKIIGNTVNPIWQAEQFSFVSLPTDVLEIEVKDKFAKSRPIIKRFLGK
LSMPVQRLLERHAIGDRVV
SYTLGRRLPTDHVSGQLQFRFEITSSIHPDDEEISLSTEPE
SAQIQDSPMNNLMESGSGEPRSEAPESSESWKPEQLGEGSVPDGPGNQSIELSRPAEEAA
VITEAGDQGMVSVGPEGAGELLAQVQKDIQPAPSAEELAEQLDLGEEASALLLEDGEAPA
STKEEPLEEEATTQSRAGREEEEKEQEEEGDVSTLEQGEGRLQLRASVKRKSRPCSLPVS
ELETVIASACGDPETPRTHYIRIHTLLHSMPSAQGGSAAEEEDGAEEESTLKDSSEKDGL
SEVDTVAADPSALEEDREEPEGATPGTAHPGHSGGHFPSLANGAAQDGDTHPSTGSESDS
SPRQGGDHSCEGCDASCCSPSCYSSSCYSTSCYSSSCYSASCYSPSCYNGNRFASHTRFS
SVDSAKISESTVFSSQDDEEEENSAFESVPDSMQSPELDPESTNGAGPWQDELAAPSGHV
ERSPEGLESPVAGPSNRREGECPILHNSQPVSQLPSLRPEHHHYPTIDEPLPPNWEARID
SHGRVFYVDHVNRTTTWQRP
TAAATPDGMRRSGSIQQMEQLNRRYQNIQRTIATERSEED
SGSQSCEQAPAGGGGGGGSDSEAESSQSSLDLRREGSLSPVNSQKITLLLQSPAVKFITN
PEFFTVLHANYSAYRVFTSSTCLKHMILKVRRDARNFERYQHNRDLVNFINMFA
DTRLEL
PRGWEIKTDQQGKSFFVDHNSRATTFIDPRIPLQNGRLPNHLTHRQHLQRLRSYSAGEAS
EVSRNRGASLLARPGHSLVAAIRSQHQHESLPLAYNDKIVAFLRQPNIFEMLQERQPSLA
RNHTLREKIHYIRTEGNHGLEKLSCDADLVILLSLFEEEIMSYVPLQAAFHPGYSFSPRC
SPCSSPQNSPGLQRASARAPSPYRRDFEAKLRNFYRKLEAKGFGQGPGKIKLIIRRDHLL
EGTFNQVMAYSRKELQRNKLYVTFVGEEGLDYSGPSREFFFLLSQELFNPYYGLFEYSAN
DTYTVQISPMSAFVENHLEWFRFSGRILGLALIHQYLLDAFFTRPFYKALLRLPCDLSDL
EYLDEEFHQSLQWMKDNNITDILDLTFTVNEEVFGQVTERELKSGGANTQVTEKNKKEYI
ERMVKWRVERGVVQQTEALVRGFYEVVDSRLVSVFDARELELVIAGTAEIDLNDWRNNTE
YRGGYHDGHLVIRWFWAAVERFNNEQRLRLLQFVTGTSSVPYEGFAALRGSNGLRRFCIE
KWGKITSLPRAHTCFNRLDLPPYPSYSMLYEKLLTAVEETSTFGLE
Sequence length 1606
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Degradation of DVL
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Lung cancer Benign rs79655368 RCV005902772
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Follicular Associate 31238008
Amyotrophic Lateral Sclerosis Associate 36674783
Carcinogenesis Associate 21108931
Carcinoma Renal Cell Inhibit 34348693
COVID 19 Associate 34185889
Glioma Associate 38049396
Glomerulonephritis IGA Associate 31057023
Lymphatic Metastasis Associate 34348693
Muscular Dystrophy Emery Dreifuss Associate 29753763
Neoplasm Metastasis Inhibit 34348693